Question:

In 2007 i lost a pregnancy through a miscarriage at 9 weeks and then on 4 January 2011 i suffered a stillbirth at 36 weeks. My gynae did a lot of tests and a biopsy on my son to find out what caused the stillbirth. All the results came negetive except for my bile salts which were 12.99, but he said that did not cause the stillbirth. They also found that i have a balanced chromosome translocation, and that the child had the same translocation.What does this mean. Should i explore it any further because he took more blood to do more chromosome tests. I am terrified of the results. I just need advice on whether going for genetic counselling will be of any benefit, and if i do it, what are the key answers I need to get from the counsellor. All this genetic jargon is too complicated.

Answer:

Losing any baby before delivery is always difficult emotionally, especially when it occurs near term. Working through the grief process after such a loss is very important. Once you are ready to think about trying again, a careful evaluation is important. It sounds like your obstetrician has done such an evaluation. Every woman has 23 pairs of chromosomes (46 total). A balanced translocation is when parts of one chromosome breaks off and is attached to another one. It is called “balanced” because all the chromosome parts are there; however, one piece is in a different location than normal. As a result, when you get pregnant again, there is a good chance that the baby will have too much (2.3) or too little (1.7) of a chromosome that you are supposed to have exactly 2 of.

This will cause problems in many cases with the baby before delivery or after delivery. For this reason, it is extremely important to talk to a genetic counselor so that you can consider all your options. Most women with balanced translocations can still have normal healthy babies, but you need to be aware of what your chances are and what tests and procedures can be used to decrease your chances of having another problem.

For more information:

Go to the Gynecology health topic.